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Wellcome Trust Centre for Human Genetics
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Functional implications of genetic variation in non-coding DNA for disease susceptibility and gene regulation.
Clinical science (London, England : 1979) May, 2003 | Pubmed ID: 12513691
In vivo characterization of regulatory polymorphisms by allele-specific quantification of RNA polymerase loading.
Nature genetics Apr, 2003 | Pubmed ID: 12627232
Allele-specific repression of lymphotoxin-alpha by activated B cell factor-1.
Nature genetics Apr, 2004 | Pubmed ID: 15052269
Regulatory polymorphisms underlying complex disease traits.
Journal of molecular medicine (Berlin, Germany) Feb, 2005 | Pubmed ID: 15592805
The chromosome 6p22 haplotype associated with dyslexia reduces the expression of KIAA0319, a novel gene involved in neuronal migration.
Human molecular genetics May, 2006 | Pubmed ID: 16600991
Analysis of allele-specific gene expression.
Methods in molecular biology (Clifton, N.J.) , 2006 | Pubmed ID: 16888357
Origins of magic: review of genetic and epigenetic effects.
BMJ (Clinical research ed.) Dec, 2007 | Pubmed ID: 18156238
Chromatin profiling across the human tumour necrosis factor gene locus reveals a complex, cell type-specific landscape with novel regulatory elements.
Nucleic acids research Sep, 2008 | Pubmed ID: 18653526
HLA class I alleles tag HLA-DRB1*1501 haplotypes for differential risk in multiple sclerosis susceptibility.
Proceedings of the National Academy of Sciences of the United States of America Sep, 2008 | Pubmed ID: 18765817
Expression of the multiple sclerosis-associated MHC class II Allele HLA-DRB1*1501 is regulated by vitamin D.
PLoS genetics Feb, 2009 | Pubmed ID: 19197344
A common variant associated with dyslexia reduces expression of the KIAA0319 gene.
PLoS genetics Mar, 2009 | Pubmed ID: 19325871
Multiple sclerosis and the major histocompatibility complex.
Current opinion in neurology Jun, 2009 | Pubmed ID: 19387341
Identification of a novel beta-cell glucokinase (GCK) promoter mutation (-71G>C) that modulates GCK gene expression through loss of allele-specific Sp1 binding causing mild fasting hyperglycemia in humans.
Diabetes Aug, 2009 | Pubmed ID: 19411616
The human Major Histocompatibility Complex as a paradigm in genomics research.
Briefings in functional genomics & proteomics Sep, 2009 | Pubmed ID: 19468039
Insights into the nature and consequences of our variable genome.
Briefings in functional genomics & proteomics Sep, 2009 | Pubmed ID: 19808931
An integrated expression phenotype mapping approach defines common variants in LEP, ALOX15 and CAPNS1 associated with induction of IL-6.
Human molecular genetics Feb, 2010 | Pubmed ID: 19942621
Leprosy and the adaptation of human toll-like receptor 1.
PLoS pathogens , 2010 | Pubmed ID: 20617178
Understanding human genetic variation in the era of high-throughput sequencing.
EMBO reports Sep, 2010 | Pubmed ID: 20725090
A ChIP-seq defined genome-wide map of vitamin D receptor binding: associations with disease and evolution.
Genome research Oct, 2010 | Pubmed ID: 20736230
Genetic determinants of HSP70 gene expression following heat shock.
Human molecular genetics Dec, 2010 | Pubmed ID: 20876613
Vitamin D receptor gene methylation is associated with ethnicity, tuberculosis, and TaqI polymorphism.
Human immunology Mar, 2011 | Pubmed ID: 21168462
A common haplotype of the TNF receptor 2 gene modulates endotoxin tolerance.
Journal of immunology (Baltimore, Md. : 1950) Mar, 2011 | Pubmed ID: 21282507
Allele-specific transcription of the asthma-associated PHD finger protein 11 gene (PHF11) modulated by octamer-binding transcription factor 1 (Oct-1).
The Journal of allergy and clinical immunology Apr, 2011 | Pubmed ID: 21320718
Pervasive haplotypic variation in the spliceo-transcriptome of the human major histocompatibility complex.
Genome research Jul, 2011 | Pubmed ID: 21628452
University of Oxford
Silvia Paracchini1,
Anthony P. Monaco1,
Julian C. Knight1
1Wellcome Trust Centre for Human Genetics, University of Oxford
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